Incidental Mutation 'R7243:Ptbp2'
ID 563339
Institutional Source Beutler Lab
Gene Symbol Ptbp2
Ensembl Gene ENSMUSG00000028134
Gene Name polypyrimidine tract binding protein 2
Synonyms brPTB
MMRRC Submission 045307-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7243 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 119512391-119578115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119546761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 40 (N40K)
Ref Sequence ENSEMBL: ENSMUSP00000029780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029780] [ENSMUST00000197464] [ENSMUST00000197833] [ENSMUST00000200097]
AlphaFold Q91Z31
Predicted Effect possibly damaging
Transcript: ENSMUST00000029780
AA Change: N40K

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: N40K

DomainStartEndE-ValueType
RRM 60 129 3.8e-6 SMART
low complexity region 144 159 N/A INTRINSIC
RRM 182 251 1.22e-4 SMART
low complexity region 285 295 N/A INTRINSIC
RRM 339 408 1.07e-9 SMART
RRM 456 526 1.99e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197464
AA Change: N40K

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143281
Gene: ENSMUSG00000028134
AA Change: N40K

DomainStartEndE-ValueType
RRM 60 129 3.8e-6 SMART
low complexity region 144 159 N/A INTRINSIC
Pfam:RRM_1 183 239 8.6e-6 PFAM
Pfam:RRM_5 197 240 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197833
AA Change: N40K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134
AA Change: N40K

DomainStartEndE-ValueType
RRM 60 129 1.7e-8 SMART
low complexity region 144 159 N/A INTRINSIC
RRM 182 251 5.2e-7 SMART
low complexity region 285 295 N/A INTRINSIC
PDB:2MJU|A 325 349 4e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000200097
AA Change: N40K

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: N40K

DomainStartEndE-ValueType
RRM 60 129 3.8e-6 SMART
low complexity region 144 159 N/A INTRINSIC
RRM 182 251 1.22e-4 SMART
low complexity region 285 295 N/A INTRINSIC
RRM 339 408 1.07e-9 SMART
RRM 456 525 8.08e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with premature neurogenesis and abnormal neural stem cell polarity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 G A 11: 69,781,297 (GRCm39) H103Y probably benign Het
Adamdec1 A G 14: 68,809,203 (GRCm39) M253T probably benign Het
Alox15 C A 11: 70,241,540 (GRCm39) G114C probably null Het
Aox3 G T 1: 58,177,466 (GRCm39) G227V unknown Het
Atp8a2 A T 14: 59,885,291 (GRCm39) N1144K probably benign Het
Cacna1c C T 6: 118,614,690 (GRCm39) probably null Het
Cog6 A T 3: 52,909,736 (GRCm39) W314R probably damaging Het
Col5a2 A G 1: 45,415,320 (GRCm39) I1473T probably benign Het
Csmd1 T A 8: 15,965,357 (GRCm39) D3218V probably damaging Het
Cyp3a11 A G 5: 145,795,613 (GRCm39) M446T probably damaging Het
Dhps A G 8: 85,801,567 (GRCm39) Y340C probably benign Het
Dnah7b A G 1: 46,122,914 (GRCm39) N108S probably benign Het
Dnajb1 C T 8: 84,337,393 (GRCm39) P323L probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 G T 9: 7,102,405 (GRCm39) T2665K possibly damaging Het
Etv1 C T 12: 38,907,045 (GRCm39) S349L probably benign Het
Fam171a1 A T 2: 3,119,653 (GRCm39) T21S probably benign Het
Fbh1 T A 2: 11,756,336 (GRCm39) T749S probably benign Het
Fcho2 T C 13: 98,891,724 (GRCm39) D346G possibly damaging Het
Fcrl5 A G 3: 87,349,552 (GRCm39) H109R probably benign Het
Fstl1 A G 16: 37,647,088 (GRCm39) S153G probably benign Het
Fyb1 T C 15: 6,673,180 (GRCm39) F605L probably benign Het
Gcat T A 15: 78,921,063 (GRCm39) M363K possibly damaging Het
Gm10604 T C 4: 11,980,113 (GRCm39) T64A unknown Het
Grin2d A G 7: 45,515,552 (GRCm39) L147P probably damaging Het
Ift88 A T 14: 57,667,993 (GRCm39) probably null Het
Ighg1 A T 12: 113,294,066 (GRCm39) C26S Het
Ing2 A G 8: 48,127,574 (GRCm39) S48P probably damaging Het
Kat6a C T 8: 23,428,791 (GRCm39) T1382I probably benign Het
Kdm1a A G 4: 136,279,265 (GRCm39) V765A probably damaging Het
Klk1b26 T C 7: 43,665,691 (GRCm39) S168P not run Het
Klk1b26 A G 7: 43,666,337 (GRCm39) N260S probably damaging Het
Lama3 G A 18: 12,552,902 (GRCm39) G438D probably damaging Het
Larp6 T A 9: 60,620,569 (GRCm39) D27E probably benign Het
Lrba T A 3: 86,658,823 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,883 (GRCm39) probably null Het
Megf9 T C 4: 70,353,708 (GRCm39) E366G probably benign Het
Mob1b T A 5: 88,891,304 (GRCm39) D52E probably damaging Het
Ndufb3 A T 1: 58,630,282 (GRCm39) H11L unknown Het
Odc1 T G 12: 17,600,058 (GRCm39) Y407* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 A G 16: 29,405,814 (GRCm39) I126M probably benign Het
Or2t47 T C 11: 58,442,227 (GRCm39) I279M probably damaging Het
Or3a1b T A 11: 74,012,559 (GRCm39) V148E probably damaging Het
Or51a10 A G 7: 103,698,962 (GRCm39) Y200H probably damaging Het
Or51f5 A T 7: 102,430,865 (GRCm39) T61S probably benign Het
Pcca A G 14: 123,114,186 (GRCm39) H633R probably benign Het
Pcdhb22 A G 18: 37,653,685 (GRCm39) R461G probably benign Het
Pcf11 A T 7: 92,309,268 (GRCm39) D647E probably damaging Het
Plscr1l1 A G 9: 92,225,726 (GRCm39) Y16C probably damaging Het
Plxnd1 T A 6: 115,949,468 (GRCm39) I773F probably benign Het
Prl8a1 A T 13: 27,766,086 (GRCm39) L3Q probably damaging Het
Psg17 C A 7: 18,552,640 (GRCm39) G212C probably damaging Het
Ptprj T C 2: 90,276,765 (GRCm39) H1102R probably damaging Het
Rbfox3 T C 11: 118,404,100 (GRCm39) Y33C probably damaging Het
Ros1 T A 10: 51,999,477 (GRCm39) N1158Y probably damaging Het
Rpgrip1l T C 8: 91,996,751 (GRCm39) I710V probably benign Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Slc12a4 A T 8: 106,680,552 (GRCm39) M190K probably damaging Het
Slc22a20 G A 19: 6,021,599 (GRCm39) R468C probably damaging Het
Slc45a2 T A 15: 11,023,436 (GRCm39) Y347N possibly damaging Het
Slc4a10 A G 2: 62,134,206 (GRCm39) Y974C probably damaging Het
Snap47 A G 11: 59,319,548 (GRCm39) S197P probably benign Het
Snph T C 2: 151,436,173 (GRCm39) S252G probably damaging Het
Spns2 A T 11: 72,347,686 (GRCm39) W335R probably damaging Het
Thnsl1 A G 2: 21,217,658 (GRCm39) I471V probably damaging Het
Tmprss11f C A 5: 86,677,975 (GRCm39) G265C probably damaging Het
Tnn C T 1: 159,934,687 (GRCm39) R1242H probably benign Het
Tsc2 T C 17: 24,818,604 (GRCm39) R1412G probably benign Het
Tsc22d2 G T 3: 58,323,884 (GRCm39) V259F unknown Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wls A T 3: 159,615,402 (GRCm39) I306F possibly damaging Het
Zfp566 A G 7: 29,777,701 (GRCm39) V160A probably benign Het
Zfyve28 T C 5: 34,356,219 (GRCm39) T761A probably damaging Het
Zswim8 G A 14: 20,764,436 (GRCm39) R602Q probably damaging Het
Other mutations in Ptbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Ptbp2 APN 3 119,541,461 (GRCm39) missense probably damaging 1.00
IGL01874:Ptbp2 APN 3 119,541,449 (GRCm39) missense probably damaging 1.00
IGL01940:Ptbp2 APN 3 119,519,764 (GRCm39) missense possibly damaging 0.46
IGL02094:Ptbp2 APN 3 119,546,589 (GRCm39) splice site probably benign
IGL02374:Ptbp2 APN 3 119,514,342 (GRCm39) splice site probably benign
IGL02523:Ptbp2 APN 3 119,534,136 (GRCm39) nonsense probably null
IGL02879:Ptbp2 APN 3 119,534,054 (GRCm39) missense probably damaging 1.00
IGL03149:Ptbp2 APN 3 119,514,074 (GRCm39) missense possibly damaging 0.86
IGL03153:Ptbp2 APN 3 119,545,593 (GRCm39) missense probably benign 0.04
IGL03391:Ptbp2 APN 3 119,514,031 (GRCm39) nonsense probably null
R0067:Ptbp2 UTSW 3 119,514,290 (GRCm39) missense probably benign 0.00
R0067:Ptbp2 UTSW 3 119,514,290 (GRCm39) missense probably benign 0.00
R0091:Ptbp2 UTSW 3 119,514,310 (GRCm39) missense probably damaging 1.00
R0396:Ptbp2 UTSW 3 119,517,847 (GRCm39) splice site probably benign
R0511:Ptbp2 UTSW 3 119,514,613 (GRCm39) missense probably benign
R0722:Ptbp2 UTSW 3 119,514,570 (GRCm39) missense possibly damaging 0.72
R1573:Ptbp2 UTSW 3 119,546,754 (GRCm39) missense probably damaging 1.00
R1907:Ptbp2 UTSW 3 119,555,398 (GRCm39) missense probably damaging 1.00
R3606:Ptbp2 UTSW 3 119,541,281 (GRCm39) missense probably damaging 1.00
R5082:Ptbp2 UTSW 3 119,546,613 (GRCm39) missense probably benign 0.06
R5575:Ptbp2 UTSW 3 119,514,438 (GRCm39) missense possibly damaging 0.86
R5575:Ptbp2 UTSW 3 119,514,432 (GRCm39) splice site probably null
R5655:Ptbp2 UTSW 3 119,517,806 (GRCm39) missense probably benign 0.44
R5836:Ptbp2 UTSW 3 119,519,746 (GRCm39) missense probably damaging 0.98
R6290:Ptbp2 UTSW 3 119,517,769 (GRCm39) missense possibly damaging 0.50
R6364:Ptbp2 UTSW 3 119,534,091 (GRCm39) missense probably damaging 1.00
R6398:Ptbp2 UTSW 3 119,514,484 (GRCm39) missense probably benign 0.23
R6574:Ptbp2 UTSW 3 119,541,596 (GRCm39) missense probably damaging 0.99
R7037:Ptbp2 UTSW 3 119,545,557 (GRCm39) missense probably damaging 1.00
R7718:Ptbp2 UTSW 3 119,514,637 (GRCm39) missense probably null 1.00
R8182:Ptbp2 UTSW 3 119,534,078 (GRCm39) missense probably damaging 0.99
R8443:Ptbp2 UTSW 3 119,541,467 (GRCm39) missense probably damaging 1.00
R9110:Ptbp2 UTSW 3 119,541,258 (GRCm39) missense possibly damaging 0.69
R9164:Ptbp2 UTSW 3 119,546,640 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACATGCTAGTAGTAACGCTTGTG -3'
(R):5'- ATTCTACATAGACTGCACATGGC -3'

Sequencing Primer
(F):5'- AGTAACGCTTGTGCACTGTAC -3'
(R):5'- CATAGACTGCACATGGCTTGATG -3'
Posted On 2019-06-26